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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYGM

Variant:p.A660V

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PYGM

NM_005609.4:p.A660V

hg38:chr11:64750574 G>A

Associated Papers

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Gallardo E et al.

Plos One, 2011

22194990 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."